| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Simpson-Golabi-Behmel syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Wilms tumor 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene